Canonical Allele Identifier: CA1130800
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs771568668
ExAC: 1:154544260 G / A
gnomAD v2: 1-154544260-G-A
gnomAD v3: 1-154571784-G-A
gnomAD v4: 1-154571784-G-A
COSMIC: COSM4849451
MyVariant Identifiers: chr1:g.154544260G>A (hg19) chr1:g.154571784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571784G>A , CM000663.2:g.154571784G>A GRCh38
NC_000001.10:g.154544260G>A , CM000663.1:g.154544260G>A GRCh37
NC_000001.9:g.152810884G>A NCBI36
NG_008027.1:g.9004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.961G>A MANE Select ENSP00000357461.3:p.Val321Met
ENST00000636034.1:c.961G>A ENSP00000489703.1:p.Val321Met
ENST00000637900.1:c.967G>A ENSP00000490474.1:p.Val323Met
ENST00000368476.3:c.961G>A ENSP00000357461.3:p.Val321Met
NM_000748.2:c.961G>A NP_000739.1:p.Val321Met
XM_017000180.2:c.451G>A XP_016855669.1:p.Val151Met
XR_001736952.2:n.1213G>A
NM_000748.3:c.961G>A MANE Select NP_000739.1:p.Val321Met
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